A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221902



Internal ID22366138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107717137..107734197hg38UCSC Ensembl
Outerchr7:107357582..107374642hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg382959
hg192959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277992, nssv14277990, nssv14277989, nssv14277987, nssv14277991, nssv14277985, nssv14277986, nssv14277993, nssv14277988
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC26A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221902
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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